SMN1

survival of motor neuron 1, telomeric
OMIM: 600354, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SMN1 in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.9

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Spinal Muscular Atrophy Type 1
Green SMN1 in Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy 1, 253300
  • Spinal muscular atrophy 2, 253550
  • Spinal muscular atrophy 3, 253400
  • Spinal muscular atrophy 4, 271150
Green SMN1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • arthrogryposis
  • Spinal muscular atrophy-1, 253300
  • Spinal muscular atrophy-2, 253550
  • Spinal muscular atrophy-3, 253400
  • Spinal muscular atrophy-4, 271150
Red SMN1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinal muscular atrophy-4, 271150
    Green SMN1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Spinal muscular atrophy 253550
    • Spinal muscular atrophy 271150
    • Spinal muscular atrophy 253400
    • Spinal muscular atrophy 253300
    Green SMN1 in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.6
    Latest signed off version: v3.3 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Spinal muscular atrophy 1, OMIM:253300
    • Spinal muscular atrophy 2, OMIM:253550
    • Spinal muscular atrophy 3, OMIM:253400
    • Spinal muscular atrophy 4, OMIM:271150
    Tags
    • cnv
    • gene-therapy-trial
    Green SMN1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy-3, OMIM:253400
    • Spinal muscular atrophy-4, OMIM:271150
    • Spinal muscular atrophy-2, OMIM:253550
    • Spinal muscular atrophy-1, OMIM:253300
    Tags
    • gene-therapy-trial
    Green SMN1 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinal muscular atrophy-3, OMIM:253400
    • Spinal muscular atrophy-4, OMIM:271150
    • Spinal muscular atrophy-2, OMIM:253550
    • Spinal muscular atrophy-1, OMIM:253300
    Green SMN1 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy-3, 253400
    • Spinal muscular atrophy-4, 271150
    • Spinal muscular atrophy-2, 253550
    • Spinal muscular atrophy-1, 253300
    Green SMN1 in Spinal muscular atrophy type 1 rare mutation testing


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS